X-linked chronic granulomatous disease (X-CGD) may be associated with McLeod syndrome (MLS) as a contiguous gene deletion syndrome. MLS is characterized by the loss of XK protein together with Kx antigen on red blood cell (RBC) surfaces and late-onset neurocognitive symptoms. X-CGD treatment involves hematopoietic cell transplantation (HCT), and severe hemolysis may occur due to Kx antigen sensitization. Here, we report successful HCT in a 7-year-old male with X-CGD and MLS achieved by depleting RBCs from the graft and adding rituximab to the conditioning regimen. No hemolytic events occurred, and he is doing well 2 years after HCT.

Urgent haploidentical hematopoietic cell transplantation may be considered in cases of severe aplastic anemia (SAA) without human leukocyte antigen-matched donor and suffering from severe infection. However, deciding on allogeneic transplantation in the setting of active systemic infection is challenging due to poor outcomes. This report presents a case of disseminated Magnusiomyces capitatus infection in a 5-year-old male who underwent immunosuppressive therapy for hepatitis-associated SAA. To address the critical situation, granulocyte transfusion was promptly administered from the patient’s mother, followed by unmanipulated haploidentical peripheral blood stem cell transplantation from the patient’s father with posttransplant cyclophosphamide, ultimately resulting in successful rescue.

POLE codes for DNA polymerase epsilon (Pol ε) and variants of Pol ε catalytic subunit 1 can be pathogenic. We recently reported a novel POLE gene variant (p.[D1131fs];[T1891del]) which leads to bone marrow failure in two Japanese sisters. Here, we describe the successful course of hematopoietic stem cell transplantation of these two sisters. Both cases were born with congenital anemia and remained transfusion dependent. Their bone marrow showed gradually proceeding trilineage dysplasia. They both underwent HCT from an unrelated bone marrow donor and successfully achieved engraftment. Ten and eight years have passed respectively, and they are doing well without transfusion.